Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs104894328
rs104894328
4 0.851 0.080 12 49954663 missense variant C/T snv 4.8E-05 4.9E-05 0.700 0
dbSNP: rs104894332
rs104894332
4 0.851 0.080 12 49955564 missense variant G/A snv 0.010 1.000 1 2009 2009
dbSNP: rs104894333
rs104894333
4 0.851 0.080 12 49954168 missense variant C/T snv 8.3E-06; 4.1E-06 2.1E-05 0.010 1.000 1 1998 1998
dbSNP: rs104894335
rs104894335
4 0.851 0.080 12 49954317 missense variant G/A snv 0.010 1.000 1 1998 1998
dbSNP: rs104894339
rs104894339
4 0.851 0.080 12 49955577 missense variant C/G;T snv 5.0E-06; 5.5E-05 0.010 1.000 1 2004 2004
dbSNP: rs104894747
rs104894747
2 0.925 0.080 X 153905901 missense variant C/A;T snv 0.700 0
dbSNP: rs104894748
rs104894748
2 0.925 0.080 X 153906059 missense variant G/T snv 0.710 1.000 1 2000 2000
dbSNP: rs104894749
rs104894749
2 0.925 0.080 X 153906120 missense variant A/G snv 0.700 0
dbSNP: rs104894750
rs104894750
2 0.925 0.080 X 153906113 missense variant C/T snv 0.700 0
dbSNP: rs104894751
rs104894751
2 0.925 0.080 X 153905719 stop gained G/A snv 0.700 0
dbSNP: rs104894752
rs104894752
2 0.925 0.080 X 153906345 missense variant A/G snv 0.700 0
dbSNP: rs104894753
rs104894753
2 0.925 0.080 X 153906621 stop gained C/T snv 0.700 0
dbSNP: rs104894754
rs104894754
2 0.925 0.080 X 153905759 missense variant G/A snv 0.700 0
dbSNP: rs104894755
rs104894755
2 0.925 0.080 X 153906108 missense variant G/A snv 0.700 0
dbSNP: rs104894756
rs104894756
3 0.882 0.240 X 153905916 missense variant G/A;T snv 5.7E-06 0.710 1.000 1 2006 2006
dbSNP: rs104894757
rs104894757
2 0.925 0.080 X 153906047 missense variant C/T snv 0.700 0
dbSNP: rs104894758
rs104894758
2 0.925 0.080 X 153905819 missense variant T/G snv 0.700 0
dbSNP: rs104894759
rs104894759
2 0.925 0.080 X 153905643 missense variant T/A;C snv 1.7E-05 0.700 0
dbSNP: rs104894760
rs104894760
4 0.851 0.080 X 153905816 missense variant C/T snv 0.700 0
dbSNP: rs104894761
rs104894761
3 0.882 0.240 X 153905915 missense variant C/G;T snv 5.7E-06 0.700 0
dbSNP: rs139913957
rs139913957
2 0.925 0.080 12 49955550 missense variant G/A snv 2.2E-05 6.3E-05 0.010 1.000 1 2009 2009
dbSNP: rs1569545523
rs1569545523
1 1.000 0.080 X 153905608 frameshift variant G/- del 0.700 0
dbSNP: rs193922112
rs193922112
2 0.925 0.080 X 153905682 missense variant T/C snv 0.700 0
dbSNP: rs193922113
rs193922113
1 1.000 0.080 X 153905796 missense variant T/C snv 0.700 0
dbSNP: rs193922114
rs193922114
1 1.000 0.080 X 153905930 frameshift variant T/- del 0.700 0